脾肿大研究（SMS）：探索现实世界中“不明原因”脾肿大的病因。

SplenoMegaly study (SMS): exploring the etiologies for "unexplained" splenomegalies in the real world.

作者信息

Denis Guillaume, Terriou Louis, Sené Thomas, Costello Regis, Michaud Martin, Lagadec Audrey, Bauduer Frédéric, Sanhes Laurence, Rose Christian, Urbanski Geoffrey, Berger Marc G

机构信息

Department of Internal Medicine and Hematology, Rochefort Hospital, Rochefort, France.

Department of Internal Medicine and Immunology, Centre de Référence des Maladies Autoimmunes Systémiques Rares du Nord et Nord-Ouest de France (CeRAINO), CHRU, Lille, France.

出版信息

Orphanet J Rare Dis. 2025 Jun 6;20(1):285. doi: 10.1186/s13023-025-03768-3.

DOI:10.1186/s13023-025-03768-3

PMID:40481534

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12142850/

Abstract

BACKGROUND

The predominant etiologies of splenomegaly (SM) are readily discernible through routine clinical assessments, yet in numerous instances, the etiological basis remains elusive. Subsequent diagnostic steps are not consensual and are challenging for physicians due to miscellaneous causes and non-specific symptoms. This study aimed to estimate the prevalence of Gaucher disease (GD) and other etiologies in patients presenting with unexplained splenomegaly (SM) after exclusion of first intention-diagnoses (e.g., portal hypertension, hematological malignancy, hemolytic anemia, and infection) based on basic physical examination, patient interview, and routine biological exams (e.g., full blood count, liver enzymes, and reticulocyte count). Additionally, the study aimed to describe the diagnostic tests performed and the most frequent associations observed. This French prospective, observational, multicenter, longitudinal SMS study enrolled 505 patients from September 2015 to April 2020, aged ≥ 15 years, referred to hematology or internal medicine departments, with a diagnostically confirmed SM (spleen length ≥ 13 cm). SM was defined as unexplained when routine clinical and biological tests were negative. Patients were followed up until an etiology was identified or up to 18 months after inclusion.

RESULTS

An etiology of SM was found in 223 (44.5%) of 501 patients with follow up. Patients with explained SM were older, had a larger spleen, and had altered biological parameters compared with patients with unexplained SM. There was a higher prevalence of non-malignant diseases than hematological malignancies (27.1% vs. 17.0%). Overall, lysosomal storage diseases (LSDs) were diagnosed in 10 patients (2.0%), including 4 patients with GD (0.8%).

CONCLUSIONS

A list of potential predictive factors for the main diagnostic categories was identified that could optimize the diagnostic strategy for unexplained SM. This study provides new insights into exploring SM in the real world and proposes clinical and biological factors associated with specific etiologies.

CLINICAL TRIAL REGISTRATION

NCT04430881.

摘要

背景

通过常规临床评估，脾肿大（SM）的主要病因很容易识别，但在许多情况下，病因仍不明确。后续的诊断步骤尚无共识，由于病因复杂且症状不具特异性，这给医生带来了挑战。本研究旨在估计在排除基于基本体格检查、患者访谈和常规生物学检查（如全血细胞计数、肝酶和网织红细胞计数）得出的初步诊断（如门静脉高压、血液系统恶性肿瘤、溶血性贫血和感染）后，不明原因脾肿大（SM）患者中戈谢病（GD）和其他病因的患病率。此外，该研究旨在描述所进行的诊断测试以及观察到的最常见关联。这项法国前瞻性、观察性、多中心、纵向的SMS研究于2015年9月至2020年4月招募了505名年龄≥15岁、因诊断确诊为SM（脾长≥13厘米）而转诊至血液科或内科的患者。当常规临床和生物学检查结果为阴性时，SM被定义为不明原因。对患者进行随访，直至确定病因或纳入研究后18个月。

结果

在501名接受随访的患者中，223名（44.5%）发现了SM的病因。与不明原因SM患者相比，已明确病因的SM患者年龄更大，脾脏更大，生物学参数也有所改变。非恶性疾病的患病率高于血液系统恶性肿瘤（27.1%对17.0%）。总体而言，10名患者（2.0%）被诊断为溶酶体贮积病（LSDs），其中4名患者患有GD（0.8%）。